Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-generation sequencing platform. Among 148 ADPKD patients enrolled, 108 mutations were detected in 127 patients (85.8%). Compared with mutations in Caucasian published previously, the PKD2 mutation detection rate was lower, and patients carrying the PKD2 mutation invariably carried the PKD1 mutation. The definite pathogenic mutation detection rate was lower, whereas the multiple mutations detection rate was higher in Chinese patients. Then, we correlated PKD1/PKD2 mutation data and clinical data: patients with mutation exhibited a more severe phenotype; patients with >1 mutations exhibited a more severe phenotype; patients with pathogenic mutations exhibited a more severe phenotype. Thus, the PKD1/PKD2 mutation status differed by ethnicity, and the PKD1/PKD2 genotype may affect the clinical phenotype of ADPKD. Furthermore, it makes sense to detect PKD1/PKD2 mutation status for early diagnosis and prognosis, perhaps as early as the embryo/zygote stage, to facilitate early clinical intervention and family planning.
Highlights
PKD2) based on the next-generation sequencing platform, and the clinical significance of genetic diagnosis for delaying progression and reducing the incidence of Autosomal dominant polycystic kidney disease (ADPKD): 1 one hundred and forty eight patients diagnosed with ADPKD were enrolled, and their peripheral blood was subjected to next-generation sequencing
ADPKD patients were categorized into two groups: the high-risk group and the low-risk group. 2Including genetic diagnosis in clinical practice will likely reduce the economic cost of the disease and reduce monitoring patients destined to be symptom-free while proactively increasing preventive monitoring for patients at high risk for progressive renal disease to help delay the progression of ADPKD
One hundred eight mutations were detected using next-generation sequencing (NGS), all of which were confirmed by Sanger sequencing, which demonstrates that the targeted NGS platform was reliable to detect PKD1 and PKD2 mutation
Summary
PKD2) based on the next-generation sequencing platform, and the clinical significance of genetic diagnosis for delaying progression and reducing the incidence of ADPKD: 1 one hundred and forty eight patients diagnosed with ADPKD were enrolled, and their peripheral blood was subjected to next-generation sequencing. The association of genotype/phenotype showed that patients with a pathogenic mutation had higher serum creatinine levels, higher serum urea nitrogen levels, higher cystatin c levels, larger kidney volumes, and lower eGFR levels than patients with indeterminate mutations or mutation-free patients. Based on these data, ADPKD patients were categorized into two groups: the high-risk group (with pathogenic mutations) and the low-risk group (with indeterminate mutation or no mutation). Detecting mutations in ADPKD patients may provide evidence for ADPKD diagnosis and provide reference information to predict ADPKD progression and permit family planning. 1we detected mutations in the target region (PKD1 and PKD2) in Chinese patients and compared the resultant data with mutations previously detected in Caucasian patients; 2we systematically associated mutations in PKD1/PKD2 and clinical data
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